133 research outputs found

    IN MIGRANTS’ SHOES. A GAME TO RAISE AWARENESS AND SUPPORT LONG-LASTING LEARNING

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    Questo contributo guarda al gioco come tecnologia per la comunicazione e l’apprendimento, analizzandolo in particolare come volto all’integrazione di migranti, tramite l’analisi del gioco urbano persuasivo A Hostile World e dei risultati di ricerca conseguiti in occasione della sua applicazione su due gruppi di adolescenti individuati per i loro comportamenti ostili nei confronti degli immigrati. Lo scopo del gioco è far immergere i partecipanti in situazioni inconsuete, per problematizzare e modi care attitudini mentali e preconcetti esistenti, promuovendo acquisizioni di saperi capaci di modi care comportamenti e aumentare l’empatia. Lo studio è una ricerca-azione condotta tramite questionari qualitativi somministrati pre- e post-esperienza, brevi interviste e focus group. L’analisi dei risultati rivela che i giocatori sono stati coinvolti in toccanti, scomodi processi di identi cazione che hanno ridotto pregiudizi esistenti, incrementando la comprensione delle fatiche e fragilità altrui, con risultati rilevanti in termini di apprendimento trasformativo, che ancora persiste.This contribution looks at the game as a technology for communicating, sharing and learning. It poses a specific focus on the play activity as a means to address cultural integration, presenting the analysis and research outcomes gleaned enquiring the persuasive urban game AHW (full name removed for blind peer review) and its application to a group of adolescents who manifested hostile feelings towards foreigners. The game intends to immerse players into awkward situations to problematise and modify their former mindset, prejudices and biases towards migrants, fostering effective learning outcomes able to affect behaviours and increase empathy. The enquiry is an action research conducted via pre- and post-experience qualitative questionnaires, short interviews and focus groups. The analysis reveals that players were involved in processes of moving, uncomfortable identification that lessened existing prejudices, increasing the comprehension of certain immigrants’ conditions and fragility, with relevant outcomes in terms of persisting transformative learning

    Discovery of large genomic inversions using long range information.

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    BackgroundAlthough many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem. This is mainly due to the fact that breakpoints of such events typically lie within segmental duplications or common repeats, which reduces the mappability of short reads. The algorithms developed within the 1000 Genomes Project to identify inversions are limited to relatively short inversions, and there are currently no available algorithms to discover large inversions using high throughput sequencing technologies.ResultsHere we propose a novel algorithm, VALOR, to discover large inversions using new sequencing methods that provide long range information such as 10X Genomics linked-read sequencing, pooled clone sequencing, or other similar technologies that we commonly refer to as long range sequencing. We demonstrate the utility of VALOR using both pooled clone sequencing and 10X Genomics linked-read sequencing generated from the genome of an individual from the HapMap project (NA12878). We also provide a comprehensive comparison of VALOR against several state-of-the-art structural variation discovery algorithms that use whole genome shotgun sequencing data.ConclusionsIn this paper, we show that VALOR is able to accurately discover all previously identified and experimentally validated large inversions in the same genome with a low false discovery rate. Using VALOR, we also predicted a novel inversion, which we validated using fluorescent in situ hybridization. VALOR is available at https://github.com/BilkentCompGen/VALOR

    Gioco e disabilità, un’oscillazione tra limite e piacere

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    The article intends to start a critical and problematizing reflection on play and on disability, both of which are dimensions kept to the sidelines of our society which is dedicated to growth and productivity by a disciplining and normalizing pedagogical thought. A renewed view is proposed on play that can recognize its constitutive ambivalence, its transformative and subversive power andan expert and respectful view on disability which can approach the fragile and recondite dimensions of existence. Only through this view can play be accepted and reinstated into educational contexts and also into the life projects of people with disabilities as a fundamental and vital experience in view of their well-being and social inclusion.The experience of the Play Area of the non-profit association L’abilità is presented as a paradigmatic and innovative example of the implementation and realization of a radical and transformative thought which has established and returned a precious space and time for play to children with disabilities. It is a project which has been evolving continuously for fifteen years in search of newpossibilities, uncertainties and elation, swinging between the border and the pleasure of daring

    Time-varying information measures: an adaptive estimation of information storage with application to brain-heart interactions

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    Network Physiology is a rapidly growing field of study that aims to understand how physiological systems interact to maintain health. Within the information theory framework the information storage (IS) allows to measure the regularity and predictability of a dynamic process under stationarity assumption. However, this assumption does not allow to track over time the transient pathways occurring in the dynamical activity of a physiological system. To address this limitation, we propose a time-varying approach based on the recursive least squares algorithm (RLS) for estimating IS at each time instant, in non-stationary conditions. We tested this approach in simulated time-varying dynamics and in the analysis of electroencephalographic (EEG) signals recorded from healthy volunteers and timed with the heartbeat to investigate brain-heart interactions. In simulations, we show that the proposed approach allows to track both abrupt and slow changes in the information stored in a physiological system. These changes are reflected in its evolution and variability over time. The analysis of brain-heart interactions reveals marked differences across the cardiac cycle phases of the variability of the time-varying IS. On the other hand, the average IS values exhibit a weak modulation over parieto-occiptal areas of the scalp. Our study highlights the importance of developing more advanced methods for measuring IS that account for non-stationarity in physiological systems. The proposed time-varying approach based on RLS represents a useful tool for identifying spatio-temporal dynamics within the neurocardiac system and can contribute to the understanding of brain-heart interactions

    Le competenze sociali e civiche promosse dall’Europa nella normativa scolastica 0-6: un confronto tra Spagna e Italia

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    The European recommendations on education and training outline an educational approach focused on the development of key competences, which has been taken up by the majority of the national legislations of memberstates. As part of transnational research on the training of educators, coordinators and heads of 0-6 services in Spain and Italy, this contribution sets up a comparison between the indications from the European legislationand their effective national implementation through the legislative system, studying in depth and in particular the topic of social and civic competences. This comparison is developed at European level from the analysis of theRecommendation (2006, 2018) and of the New priorities (2015). In the case of Italy, the study examines the Indicazioni nazionali (2012) and Nuovi scenari (2017), Law 107 (2015) and the Implementing Decrees (2017), while for Spain the LOMCE (2013), the Real Decreto 1630/2006 relating to the minimum teaching of the second cycle of early childhood education and the Implementing Decrees are taken into consideration.Le raccomandazioni europee in materia di istruzione e formazione delineano un approccio educativo centrato sullo sviluppo di competenze chiave, assunto poi dalla maggior parte delle normative statali dei paesi membri. Nell’ambito di una ricerca transnazionale sulla formazione di educatori, coordinatori e responsabilidei servizi 0-6 tra Spagna e Italia, il contributo avvia un confronto tra le indicazioni provenienti dalla normativa europea e le effettive implementazioni nazionali del sistema normativo, approfondendo in particolare il tema delle competenze sociali e civiche. Tale confronto si sviluppa a livello europeo a partiredall’analisi della Raccomandazione (2006, 2018) e delle Nuove priorità (2015). Per l’Italia vengono presi in considerazione le Indicazioni nazionali (2012) e I nuovi scenari (2017), la Legge 107 (2015) e i Decreti attuativi (2017). Per la Spagna la LOMCE (2013), il Real Decreto 1630/2006 recante gli insegnamenti minimi del secondo ciclo di educazione della prima infanzia e i Decreti attuativi

    Exploring the Predictability of EEG Signals Timed with the Heartbeat: A Model-Based Approach for the Temporal and Spatial Characterization of the Brain Dynamics

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    This study aims to provide a temporal and spatial characterization of the human brain activity related to the cardiac cycle in terms of regularity of the brain wave amplitudes measured from electroencephalographic (EEG) signals. To achieve this objective, linear autoregressive models are employed to characterize time-series of the spectral power extracted from EEG signals, timed with the heartbeat, by using a measure of predictability. The analysis is performed on four different timeseries acquired on healthy subjects in a resting state and describing the EEG spectral content over the whole frequency spectrum and within the Ξ, α and ÎČ bands. Our results indicate predictability values with targeted activations in the frontal and parieto-occipital brain regions, which reflect regular amplitude modulations of the brain waves at rest, and could be linked to the cortical processing of the heartbeat

    Local and global measures of information storage for the assessment of heartbeat-evoked cortical responses

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    Objective: Brain–heart interactions involve bidirectional effects produced by bottom-up input at each heartbeat, and top-down neural regulatory responses of the brain. While the cortical processing of the heartbeat is usually investigated through the analysis of the Heartbeat Evoked Potential, in this study we propose an alternative approach based on the variability in the predictability of the brain dynamics induced by the heartbeat. Methods: In a group of eighteen subjects in whom simultaneous recording of the electroencephalogram (EEG) and electrocardiogram was performed in a resting-state, we analyzed the temporal profile of the local Information Storage (IS) to detect changes in the regularity of EEG signals in time windows associated with different phases of the cardiac cycle at rest. Results: The average values of the local IS were significantly higher in the parieto-occipital areas of the scalp, suggesting an activation of the Default Mode Network, regardless of the cardiac cycle phase. In contrast, the variability of the local IS showed marked differences across the cardiac cycle phases. Conclusion: Our results suggest that cardiac activity influences the predictive information of EEG dynamics differently in the various phases of the cardiac cycle. Significance: The variability of local IS measures can represent a useful index to identify spatio-temporal dynamics within the neurocardiac system, which generally remain overlooked by the more widely employed global measures

    Autosomal Dominant Familial Dyskinesia and Facial Myokymia Single Exome Sequencing Identifies a Mutation in Adenylyl Cyclase 5

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    Background: Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder that is exacerbated by anxiety. In a 5-generation family of German ancestry, we previously mapped FDFM to chromosome band 3p21-3q21. The 72.5-Mb linkage region was too large for traditional positional mutation identification. Objective: To identify the gene responsible for FDFM by exome resequencing of a single affected individual. Participants: We performed whole exome sequencing in 1 affected individual and used a series of bioinformatic filters, including functional significance and presence in dbSNP or the 1000 Genomes Project, to reduce the number of candidate variants. Co-segregation analysis was performed in 15 additional individuals in 3 generations. Main Outcome Measures: Unique DNA variants in the linkage region that co-segregate with FDFM. Results: The exome contained 23 428 single-nucleotide variants, of which 9391 were missense, nonsense, or splice site alterations. The critical region contained 323 variants, 5 of which were not present in 1 of the sequence databases. Adenylyl cyclase 5 (ADCY5) was the only gene in which the variant (c.2176G>A) was co-transmitted perfectly with disease status and was not present in 3510 control white exomes. This residue is highly conserved, and the change is nonconservative and predicted to be damaging. Conclusions: ADCY5 is highly expressed in striatum. Mice deficient in Adcy5 develop a movement disorder that is worsened by stress. We conclude that FDFM likely results from a missense mutation in ADCY5. This study demonstrates the power of a single exome sequence combined with linkage information to identify causative genes for rare autosomal dominant mendelian diseases

    Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

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    Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis for submicroscopic deletions and duplications. We identified a 1.1 Mb duplication encompassing RUNX2 in two affected cousins with metopic synostosis and hypodontia. Given that RUNX2 is required as a master switch for osteoblast differentiation and interacts with TWIST I, mutations in which also cause craniosynostosis, we conclude that the duplication in this family is pathogenic, albeit with reduced penetrance. In addition, we find that a total of 7.5% of individuals with single-suture synostosis in our series have at least one rare deletion or duplication that contains genes and that has not been previously reported in unaffected individuals. The genes within and disrupted by CNVs in this cohort are potential novel candidate genes for craniosynostosis. (C) 2010 Wiley-Liss, Inc
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